The mitochondria They are the organelles responsible for cellular respiration, the body’s energetic plants, where sugar and fat are transformed. These body batteries, which provide energy for any activity (from thinking to heart rhythm or writing), suffer from disorders of more than 1,000 proteins involved in their function or 150 identified mutations – mitochondria have their own DNA – which ends mitochondrial disease. Investigation published in Nature Canadian biologist Bryan G. Hughes on the relationship of coenzyme CoQ10 deficiency to these diseases estimates that the prevalence of these disorders is one in 4,300 individuals, compared to several hundred identified cases that are considered rare. According to Carlos Santos, Professor of Cell Biology at the University of Pablo de Olavide in Seville, “there are about 300 different mitochondrial diseases, each with its own peculiarities, so one of the big problems is the complexity of the diagnosis.” the consequences of this secret disease for years without knowing its origin.
In downtown Santos, a researcher at the Andalusian Center for Developmental Biology and Center for Biomedical Research in the Carlos III Network of Rare Diseases (Ciberer), There have been cases of people over the age of 45 who have had unexplained symptoms since the age of 25, or a teacher who has spent his entire career overcoming the disease due to a lack of diagnosis.
In this sense, Santos ensures that “there is a great distance between basic and clinical research and a bridge of communication is needed to identify mitochondrial disease in primary care.” To bridge this gap, Santos organized a summer course at Pablo de Olavide University on 15 and 16 July this year. in Carmona in collaboration with Ciberer, which is attended by some of the main Spanish specialists.
Very serious cases can be detected at birth. But those secondary, which show a lack of control over movement, fatigue, fatigue, loss of reflexes or eye problems, can suffer for years
According to the biologist, very serious cases can be detected at birth. But those secondary, which show a lack of control over movement, fatigue, fatigue, loss of reflexes, or eye problems, can drag on for years, even if they could be detected earlier.
Treatment is complex because it is a disease that involves mutations in nuclear or mitochondrial DNA, but there are treatments to compensate for certain deficiencies (such as coenzyme Q10) or palliative symptoms.
Mitochondrial diseases mainly affect organs and systems that require a greater supply of energy: brain, heart, liver, skeletal muscle, kidney, retina, ears, endocrine and respiratory.
Symptoms range from loss of control of the engine (balance, epilepsy or tremor) to muscle weakness, pain, gastrointestinal disorders, difficulty swallowing, growth retardation, heart disease, liver disease, diabetes, respiratory complications, blindness, cataract, deafness and a dozen other pathologies.
Heterogeneity of the disease and insufficient diagnosis are the main problems of the pathology, which is usually progressive and multisystemic. Investigation published in Biofactors Regarding the lack of coenzyme Q10, which is essential for mitochondrial function, he warns that “secondary cases can be underestimated because many of its clinical manifestations are shared with other pathologies.”
Treatment is complicated because it is a disease that involves mutations in nuclear and mitochondrial DNA, but there are treatments to compensate for certain deficiencies (such as coenzyme Q10) or palliative symptoms.
Santos explains that detection methods range from the most common analysis of blood serum to genetic diagnosis. But for now, all of these methods require complex validation due to a number of factors, according to research by the team of which the biologist is a part and published in Science Direct. This work on CoQ10 deficiency is complemented by a online platform, which is updated by identifying new cases to determine possible symptoms of mitochondrial disease.
Guillermo López Lluch, also a researcher at the University of Pablo de Olavide, confirms in an article published in Conversation“The loss of mitochondrial activity capacity has been associated with almost all of the chronic diseases we suffer from, including cancer, degenerative diseases such as Alzheimer’s disease, immune disease, muscle weakness, deafness, ataxia (motor incoordination), cardiomyopathy, diabetes and genetic diseases. It has even been suggested that there is a direct link between loss of mitochondrial functional capacity and aging. “
Identifying these problems is crucial, especially at an early age. In this sense, López Lluch warns: “In the case of mutations, most known mutations have effects, especially in children. When a child begins to show symptoms of rare diseases of genetic origin, pediatricians will find a very complex picture of symptoms, sometimes unrelated, that do not respond to common pathologies. Therefore, the longer it takes to find out if these symptoms are caused by a genetic problem, the less time there will be to find a solution. “